Review

Essentially whose genes

THE RACE TO map the human genome is over. While this has the potential, in time, to transform medical research, diagnostics and therapeutics, the moral implications of genetic inquiry have dominated public discussion. Concerns relating to genetic privacy and property, in areas as diverse as health care, medical research, employment, insurance, law enforcement and sport, have become a matter of increasing public and professional debate.

In an attempt to deal with these issues, the Australian Law Reform Commission (ALRC) was asked to conduct an inquiry into the protection of human genetic information. Last May, the commission released the reportEssentially Yours: The Protection of Human Genetic Information in Australia. This was the product of a two-year inquiry by the ALRC and the Australian Health Ethics Committee (AHEC) of the National Health and Medical Research Council (NHMRC). The title of the document suggests that the subject would be of great significance to the public, a view reinforced in a media release, which hailed ALRC 96 a "landmark report into the protection of human genetic information".[i]

The inquiry generated 144 recommendations. Not surprisingly, given the title of the report, these emphasised protection of genetic privacy and property through, for example, establishment of a Human Genetics Commission of Australia, strengthening the roles of research ethics committees and the development of protective legislation including laws on information privacy, control of human tissue and prevention of discrimination.

 

IT IS SOMETIMES easier to grasp issues by creating a scenario. Imagine that a 50-year-old man has a colonoscopy and a bowel polyp is discovered. A biopsy is taken (tissue is removed) leading to a diagnosis of bowel cancer. The biopsy specimen is not discarded, but stored in a "tissue bank". Bowel cancer researchers subsequently seek access to this tissue to study the genetics of bowel cancer (comparing the genetic make-up of tumor cells with normal cells). Under present legislation, the man does not need to be asked if his tissue can be stored or used in this way, and it is possible that his genetic information may get into the hands of other health-care workers, employers or insurance companies. If adopted, the inquiry's recommendations would attempt to ensure that full and informed consent is obtained for both storage and research, and that the man's genetic privacy is protected.

An examination of the history of genetics demonstrates that exploitation and breach of privacy are real possibilities and that protective measures are necessary. In developing its recommendations, the inquiry responded to specific terms of reference that included consideration of whether and to what extent a regulatory framework was needed to protect the privacy of samples and information and to provide protection from inappropriate discriminatory use of them.[ii]

The recommendations are clearly aimed at meeting these challenges and, to a large extent, they succeed. Upon closer examination, however, there is reason to suspect that, from a philosophical perspective, the inquiry did not reach its potential or realise the claim in its executive summary to be "the most comprehensive consideration of the ethical, legal and social implications of the 'New Genetics' ever undertaken".

 

THIS PAPER CRITICALLY examines the philosophicl basis of the inquiry and the manner in which it carried out its ethical deliberations on the status of genetic information. My focus is on the way the inquiry reached the conclusion that genetic information is "essentially yours", and that protection was the only goal of real significance.

The inquiry was asked to reflect on "the balance of ethical considerations relevant to the collection and uses of human genetic samples and information in Australia ..." The centrality of ethics was emphasised by partnering the Australian Health Ethics Committee with the Australian Law Reform Commission. This was an unusual, and not insignificant, alteration to the law reform process. It was justified by the perceived complexity of the ethical issues surrounding genetic information.

AHEC was described as a body that "draws on experts in philosophy", suggesting that one of its roles was to deepen the level of philosophical inquiry. In keeping with this, an early chapter of the 1200-page document was devoted to "ethical considerations and the features of genetic information that raise ethical considerations and the ways that decisions involving ethical considerations can be justified".

The chapter emphasises the need to consider issues in a contextually sensitive manner, to balance ethical considerations and to consider issues according to several ethical theories.These theories can be thought of as lenses through which the ever-changing landscape of genetic technology can be viewed – the field is crowded with competing approaches: principlist ethics, consequentialist ethics, professional ethics, critical ethics, ethics of discussion, civic ethics and narrative ethics.

The explicit emphasis on ethics in the construction of the inquiry suggests that ethical issues were dealt with in a critical, comprehensive and sophisticated manner. When the ethical reasoning is dissected, however, it becomes evident that there was room for deeper reflection.

The way the title of the report was generated illustrates this. The authors made it clear that the choice of the phrase "essentially yours" was not accidental: "... the inquiry wished to use a title that clearly signified some of the central tenets of this inquiry: that fundamental human dignity requires that individuals have a high level of control over their own genetic material, and the information derived from that material; and that human genetic information is personal, sensitive and deserving of a high level of legal protection ..."

This may seem a simple and uncontroversial assertion, but it reflects a moral stance that is both specific and contestable. This stance could be summarised as being a "libertarian" socio-political values base, whereby autonomy, democracy, tolerance of difference (pluralism) and secularism are seen as key components of flourishing societies.

The inquiry's libertarian focus is, to some extent, a direct extension of its first two terms of reference which emphasised protection. There was, however, scope to consider alternative perspectives and "[to] reflect the balance of ethical considerations relevant to the collection and uses of human genetic samples and information in Australia".

 

WHILE THERE ARE frequent references to the need for "balance", the inquiry did not make full use of its opportunities in this area. This deficiency may not be immediately obvious, given the prevalence of statements such as "justice in this complex area is not susceptible to a simple vindication of individual rights. Rather, this is an area in which strong, competing, and even directly conflicting, interests often will arise in practice."And: "The creative ambiguity inherent in the word 'essentially'... imports the suggestion that it would be misguided to become pre-occupied with absolutes, while ignoring competing interests in this area."[iii]And "... The ethical principle of mutuality recognises that the principle of individual autonomy is optimised when the strength of civil society is maximised ..."

Closer inspection reveals that this "balance" is framed within a libertarian value system. "Balance" refers to the need to balance the needs of one group against another. Protection, an essentially libertarian concept, is still the key goal.

Libertarianism was explicitly endorsed by the inquiry, not least in its uncritical endorsement of multiple ethical perspectives (ethical pluralism being a key element of socio-political liberalism). The involvement of AHEC, a bioethical committee, was unlikely to challenge this emphasis, since libertarianism tends to be built into "bioethics". Strictly speaking, the term "bioethics" simply means "ethics" – an ancient field of philosophical inquiry – applied to the biological realm. In practice, however, the field of "bioethics" emerged in the 20thcentury as a reaction to abuses of scientific and medical power by the Nazi medical experiments. This has led to a particular emphasis on the libertarian principles of individual autonomy and non-malfeasance – protecting individuals from being harmed by the clinical or research activity.

This strongly libertarian stance is so prevalent it is almost indistinguishable. It only becomes evident when alternative socio-political value systems are considered. "Communitarianism" is one alternative. As a socio-political framework, communitarianism emphasises different elements of a "good" or "flourishing" society, including the centrality of civic structures, connectedness and the common good.These social goods are not incompatible with libertarian values, but they elevate different elements.

I believe that a communitarian perspective, had it been explored, would not have dispensed with the need for protection, but could have provided a richer way of balancing ethical considerations. Rather than simply being an extension of protection, balance could have incorporated fundamentally different ways of looking at the problems and possibilities of genetic research. For example, the word "yours" may have been excluded from the title or it may have been given a significantly different meaning. "Yours" could have referred to "your community", rather than individuals requiring protection.

A communitarian perspective could have led to a more varied collection of recommendations than tightening regulation. The report may have recommended measures to stimulate altruism, to make it easier for doctors and researchers to consider the good of communities, as well as the good of individual patients and research subjects, and ways to include communities in the genetic research process, rather than simply protecting them from it.

Communities could play a direct role in risk management and in setting research priorities. Rather than being only an entity deserving of protection by ethics committees and legislation, communities could play a role in evaluating for themselves the risks and benefits of genetic research. Even more radically, communities could own the research process directly. For example, the bowel cancer "gene bank" described above could be radically reconceptualised as a community-owned and community-run bank, in which researchers and ethicists acted as consultants rather than drivers. Donors, or their representatives, could be directly involved in running them and would, therefore, be less fearful of distant exploitation.

Reconceptualising the relationship between science and communities is extreme in the current context, but probably not as far-fetched as it sounds. Communitarian research ethics have already been applied to cross-cultural research where different ethical principles predominate. For example, not all cultures place the same emphasis on informed consent by individuals. For some cultures, it is much more important to gain the consent of community leaders than of individual research subjects. Researchers from liberal democracies are reluctant to adjust their ethical frameworks to carry out research in this way. This reluctance is understandable, since making changes according to culture can quickly put one on the slippery slope of moral relativism. Nonetheless, there is increasing recognition that ethical frameworks developed in one setting may not be appropriate in other settings and that communitarian ethics can account for, and accommodate some of these differences. HIV researchers in Swaziland[iv] phoned, faxed and spoke to community leaders before visiting their district. They then held town hall meetings, at which community leaders and community members could hear about the research and ask questions. These meetings allowed information to be fed back to the researchers who were able to adjust their research to that community's needs.

Transferring this example of communitarian research ethics to the local genetic research setting, we can imagine a situation in which groups of people with particular genetic disorders (bowel cancer, say, due to specific genetic susceptibilities) would form, or extend existing "disease communities". Representatives of these communities would become well-versed in the implications of research proposals, and these people would be the first contacted by researchers, the recipients of detailed information and the granters of consent on behalf of individual research subjects. While the ALRC report does acknowledge the importance of family – a type of community – in gaining consent for genetic research, it does not develop this.

Any moves away from libertarianism would require caution. Our emphasis on libertarian values has arisen from well-founded concerns about abuses of power and the dangers of "group psychology". It is difficult to distinguish "legitimate" community representatives from lobby groups with specific, albeit well-intentioned agendas. This lesson was learned with HIV in Australia where some lobbyists discouraged participation of "their" community in HIV drug trials, fearing that this would lead to increased unsafe sex and HIV transmission.[v] Other complex issues include deciding which groups qualify as "communities" and determining the nature of the relationship between the community and the individuals within it.

 

A FINAL CAVEAT: even if the report had considered communitarian values, and generated different recommendations, implementation of these recommendations would have been far from guaranteed. Clinical practice guidelines provide an illustration of the difficulties of changing social practice, particularly at the micro-management level. A medical activity as simple as doctors washing their hands has not been uniformly implemented despite educational campaigns and clear evidence of benefit.[vi]

Explanations are complex and include lack of knowledge, lack of reinforcement, negative peer pressure and structural and power factors. Still, doctors do not wash their hands as often as they should when they are on general ward duty.

This does not mean that communitarian efforts would be futile. Rather, changes would need to be well-resourced, carefully carried out and concentrated where the need is greatest and community engagement most likely. While the ALRC's "full community ownership of scientific processes" may be an impossibly broad and ambitious goal, it may be worthwhile to target specific areas. Doctors may not wash their hands on general wards, but they do "scrub up" before surgery. Similarly, it may be possible to implement communitarian research ethics in situations where they are most needed and most likely to work.

The bowel cancer example illustrates the role of communitarian research ethics in accounting for, and respecting, the authority of community leaders in giving informed consent. Communitarian research ethics can also alleviate some of the problems associated with research involving disadvantaged and disempowered communities. By emphasizing the primacy of communities, issues that may be unique to particular community groups and issues that would not be picked up if research subjects were considered only as individuals could be considered. Community members are more likely to have this level of insight. This approach would also enable communities to protect themselves from exploitation, in a way that individual research participants can not.

Applying this approach to genetic research could lead to specific gene banks for Indigenous populations. Community leaders could alert researchers to non-obvious concerns – such as the sacredness of human tissue – and research could be adjusted to take these concerns into account, storing and disposing of genetic material in a culturally-sensitive manner. Giving control of the gene bank to the community could alleviate justified fears of exploitation. Indigenous communities already have structures in place for community representation, and there is no reason that these could not be extended.

Communitarian ethics would not, and should not, dispense with libertarian values and practices. In addition to the limitations to communitarian research ethics described here, there are dangers associated with justifications for research itself, which can led to morally reprehensible actions such as infecting mentally retarded children with hepatitis, or carrying out immunisation research, for the good of the wider "community". But communitarian moves could provide a balance, as libertarian values on their own do not paint a rich, or even realistic, picture of human flourishing. Communitarian values could provide refreshing and contextually rich alternative conceptions of the problems and promises of genetic technology.

The philosophically "lateral", but otherwise simple act of viewing the issues through a different socio-political lens can make even a 1200-page document seem rather "small". This may also help explain why Essentially Yours may be less engaging to the community than its "landmark" status promised. These ideas are an important starting point in a reconceptualisation of genetic technology. To do this will require an exercise of imagination, a non-technical, highly accessible activity that could be the beginning for fascinating new impressions of complex technological activities.



[i] ALRC media release May 29, 2003

http://www.alrc.gov.au/media/2003/mr2905.htm

[ii] ALRC 96 Essentially Yours: The Protection of Human Genetic Information in Australia. Australian Law Reform Commission; 2003.

[iii] Little, Miles Communitarianism, Autonomy, Ontological Security & Human Flourishing An Exploratory Essay. Centre for Values, Ethics and the Law in Medicine, University of Sydney, 2001

[iv] Dresden Elissa et al. Approaching ethical reasoning in nursing research through a communitarian perspective. Journal of Professional Nursing. 2003: 19(5): 295-304.

[v] Grol Richard, Grimshaw Jeremy. From best evidence to best practice: effective implementation of change in patients' care. The Lancet. 2003: 362(9391):1225-30.

[vi] As occurred at Willowbrook State School in New York State from 1963 to 1966. Although the immediate justification was that these children would be infected "anyway" and were better off being infected under carefully controlled research conditions, the overarching justification was the potential benefit of the immunisation research for the wider community.

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